Hb D-Neath beta121(GH4)Glu->Ala
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves like Hb S
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephacel chromatography
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAA->GCA at codon 121
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found in members of a Caucasian family in England
OTHER INFORMATION Quantity in the heterozygote 36%
       
REFERENCES
1. Welch, S.G. and Bateman, C.: Hemoglobin, 17:255, 1993.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.